Intellectual disability - syndromic and non-syndromic forms
*= For these genes, an MLPA analysis may be performed as an additional diagnostic step.
Large panel: Exome-based analysis of ~ 2500 consensus sequences for identification (Erger et al., 2019). Prioritising the gene for analysis using HPO terms.
Small panel (#018): Coffin-Siris syndrome, genes according to Tsurusaki et al., Clin Genet 2014 and Wieczorek et al., Human Molecular Genetics 2013
ARID1A*, ARID1B*, PHF6, SMARCA4, SMARCB1, SMARCE1
(6 genes, 22,1 kb)
Large panel (#267): Coffin-Siris syndrome
ARID1A*, ARID1B*, ARID2, DPF2, PHF6, SMARCA4, SMARCB1, SMARCE1, SMARCA2, SOX11
(10 genes, 34,92 kb)
Small panel (#268): Kabuki syndrome
KDM6A*, KMT2D*
(2 genes, 20,82 kb)
Small panel (#019): Cornelia-de-Lange syndrome, genes according to NCBI GeneReviews
1. NIPBL*, 2. HDAC8, RAD21, SMC1A, SMC3
(5 genes, 18,8 kb)
Small panel (#270): Poretti-Holzhauser syndrome
LAMA1
(1 gene, 9,23 kb)
Small panel (#022): Dystroglycanopathy, congenital glycosylation disorder, selection according to NCBI GeneReviews, OMIM database
1. PMM2, 2. ALG1, ALG12, ALG3, ALG6, ALG8, COG5, COG6, DPAGT1, DPM1, MPDU1, MPI, RFT1, SRD5A3, TMEM165, TUSC3, PGM3
(17 genes, 22,93 kb)
Large panel (#021): Dystroglycanopathy, congenital glycosylation disorder, genes according to NCBI GeneReviews, OMIM database
1. PMM2, 2. ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, B4GALT1, CAD, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DOLK, DPAGT1, DPM1, DPM2, DPM3, GMPPA, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, PGM1, RFT1, SLC35A1, SLC35A2, SLC35C1, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TUSC3, PGM3
(43 genes, 70,22 kb)
Large panel (#020): Epileptic encephalopathy in infants and children, genes according to McTague et al., Lancet Neurol 2016
AARS, ALG13, ARX, BRAT1, CACNA2D2, CDKL5, CHD2, DNM1, DOCK7, FLNA, FOXG1, GABRA1, GABRB3, GNAO1, GRIN1, GRIN2A, HCN1, IQSEC2, KCNA2, KCNQ2, KCNQ3, KCNT1, MEF2C, MTOR, NDP, NECAP1, NRXN1, PCDH19, PIGA, PLCB1, PTEN, QARS, SCN1A, SCN2A, SCN8A, SETBP1, SIK1, SLC12A5, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SPTAN1, ST3GAL3, STXBP1, TBC1D24, TCF4, WWOX
(49 genes, 150,25 kb)
Single gene diagnostics:
BRAT1, SCN2
Large panel (#469)
All genes in the panel (360 genes, 1419 kb)
Small panel (#271): Treacher-Collins syndrome
TCOF1, POLR1C, POLR1D
(3 genes, 5,91 kb)